ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene
Author:
Funder
Council of Scientific and Industrial Research, India
Publisher
Elsevier BV
Subject
Computer Science Applications,Genetics,Biochemistry,Structural Biology,Biophysics,Biotechnology
Reference83 articles.
1. Biochemical, metabolic, and clinical role of copper in human nutrition;Solomons;J Am Coll Nutr,1985
2. ATP7A-related copper transport diseasesg-emerging concepts and future trends;Kaler;Nat Rev Neurol,2011
3. Expression of copper-related genes in response to copper load;González;Am. J. Clin. Nutr.,2008
4. Copper transport and its alterations in Menkes and Wilson diseases;DiDonato;Biochim Biophys Acta – Mol Basis Dis,1997
5. The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation;León-García;BMC Pediatr,2012
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